Mannosidosis is a deficiency in mannosidase, an enzyme.[1] There are two types: alpha-mannosidosis and beta-mannosidosis. Both disorders are related to the lysosome and have similar presentation; the former is caused by defective lysosomal α-mannosidase and the latter by defective lysosomal β-mannosidase. In both cases, the defect causes accumulation of oligosaccharides rich in mannose[2] in the neural tissue and organ tissue.[3] Both alpha- and beta-mannosidosis are known to result from autosomal recessive genetic mutations.[4]

Alpha-mannosidosis

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Beta-mannosidosis

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See also

References

  1. ↑ Mannosidosis at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
  2. ↑ Ellison, David; Love, Seth; Chimelli, Leila; Harding, Brian N.; Lowe, James S.; Vinters, Harry V.; Brandner, Sebastian; Yong, William H. (2013), "Lysosomal and peroxisomal disorders", Neuropathology, Elsevier, pp. 479–498, doi:10.1016/b978-0-7234-3515-0.00023-4, ISBN 978-0-7234-3515-0, retrieved 2024-01-03
  3. ↑ Ming, Jeffrey E.; Graham, John M. (2014-01-01), Sullivan, Kathleen E.; Stiehm, E. Richard (eds.), "Chapter 12 - Genetic Syndromes with Evidence of Immune Deficiency", Stiehm's Immune Deficiencies, Amsterdam: Academic Press, pp. 281–324, doi:10.1016/b978-0-12-405546-9.00012-1, ISBN 978-0-12-405546-9, retrieved 2024-01-03
  4. ↑ Malm, Dag; Nilssen, Øivind (December 2008). "Alpha-mannosidosis". Orphanet Journal of Rare Diseases. 3 (1). doi:10.1186/1750-1172-3-21. ISSN 1750-1172. PMC 2515294. PMID 18651971.
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